Details for phenotype: Paget disease, juvenlie

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EndoNet ID: ENP00563

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Name

Paget disease, juvenlie

General information

This phenotype is pathologic

• Juvenile Paget disease can result from osteoprotegerin deficiency. [1]

Links to other resources

GO	regulation of osteoclast differentiation
OMIM	239000
Medline Plus	000414
MeSH term	D010001
Disease database	9479

Phenotype triggers

• Tumor necrosis factor receptor superfamily member 11B ui-button
  in osteoblast ui-button
  • Juvenile Paget disease can result from osteoprotegerin deficiency by homozygous or compound heterozygous mutation in the TNFRSF11B gene. [1]

EndoNet at the Institut for Bioinformatics UMG Göttingen